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Number of items: 8.

Journal Article

Delle Vedove, Andrea, Natarajan, Janani, Zanni, Ginevra, Eckenweiler, Matthias, Muinos-Buehl, Anixa, Storbeck, Markus, Boixet, Jordina Guillen, Barresi, Sabina, Pizzi, Simone, Hoelker, Irmgard, Koerber, Friederike, Franzmann, Titus M., Bertini, Enrico S., Kirschner, Janbernd ORCID: 0000-0003-1618-7386, Alberti, Simon, Tartaglia, Marco and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2022). CAPRIN1(P512L) causes aberrant protein aggregation and associates with early-onset ataxia. Cell. Mol. Life Sci., 79 (10). BASEL: SPRINGER BASEL AG. ISSN 1420-9071

Finkel, Richard S., Mercuri, Eugenio ORCID: 0000-0002-9851-5365, Meyer, Oscar H., Simonds, Anita K., Schroth, Mary K., Graham, Robert J., Kirschner, Janbernd ORCID: 0000-0003-1618-7386, Iannaccone, Susan T., Crawford, Thomas O., Woods, Simon ORCID: 0000-0002-8998-5234, Muntoni, Francesco, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Montes, Jacqueline, Main, Marion, Mazzone, Elena S., Vitale, Michael, Snyder, Brian, Quijano-Roy, Susana, Bertini, Enrico ORCID: 0000-0001-9276-4590, Davis, Rebecca Hurst, Qian, Ying and Sejersen, Thomas (2018). Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromusc. Disord., 28 (3). S. 197 - 208. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

Hagenacker, Tim, Wurster, Claudia D., Guenther, Rene, Schreiber-Katz, Olivia, Osmanovic, Alma, Petri, Susanne, Weiler, Markus, Ziegler, Andreas, Kuttler, Josua, Koch, Jan C., Schneider, Ilka, Wunderlich, Gilbert, Schloss, Natalie, Lehmann, Helmar C., Cordts, Isabell, Deschauer, Marcus, Lingor, Paul ORCID: 0000-0001-9362-7096, Kamm, Christoph, Stolte, Benjamin, Pietruck, Lena, Totzeck, Andreas, Kizina, Kathrin, Monninghoff, Christoph, von Velsen, Otgonzul, Ose, Claudia, Reichmann, Heinz, Forsting, Michael, Pechmann, Astrid, Kirschner, Janbernd, Ludolph, Albert C., Hermann, Andreas and Kleinschnitz, Christoph (2020). Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study. Lancet Neurol., 19 (4). S. 317 - 326. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1474-4465

Hallmann, Kerstin, Zsurka, Gabor ORCID: 0000-0002-6379-849X, Moskau-Hartmann, Susanna, Kirschner, Janbernd ORCID: 0000-0003-1618-7386, Korinthenberg, Rudolf ORCID: 0000-0002-4638-3460, Ruppert, Ann-Kathrin, Ozdemir, Ozkan, Weber, Yvonne, Becker, Felicitas, Lerche, Holger, Elger, Christian E., Thiele, Holger, Nuernberg, Peter, Sander, Thomas and Kunz, Wolfram S. ORCID: 0000-0003-1113-3493 (2014). A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy. Neurology, 83 (23). S. 2183 - 2188. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1526-632X

Karakaya, Mert ORCID: 0000-0001-5395-8894, Storbeck, Markus, Strathmann, Eike A., Delle Vedove, Andrea, Hoelker, Irmgard, Altmueller, Janine, Naghiyeva, Leyla, Schmitz-Steinkrueger, Lea, Vezyroglou, Katharina, Motameny, Susanne, Alawbathani, Salem, Thiele, Holger, Polat, Ayse Ipek, Okur, Derya, Boostani, Reza, Karimiani, Ehsan Ghayoor, Wunderlich, Gilbert, Ardicli, Didem, Topaloglu, Haluk, Kirschner, Janbernd ORCID: 0000-0003-1618-7386, Schrank, Bertold, Maroofian, Reza, Magnusson, Olafur, Yis, Uluc, Nuernberg, Peter, Heller, Raoul and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2018). Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies. Hum. Mutat., 39 (9). S. 1284 - 1299. HOBOKEN: WILEY. ISSN 1098-1004

Mayr, Simon Julius, Sass, Joern Oliver, Vry, Julia, Kirschner, Janbernd ORCID: 0000-0003-1618-7386, Mader, Irina, Hoevener, Jan-Bernd, Reiss, Jochen, Santamaria-Araujo, Jose Angel, Schwarz, Guenter ORCID: 0000-0002-2118-9338 and Gruenert, Sarah Catharina (2018). A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation. J. Inherit. Metab. Dis., 41 (2). S. 187 - 197. DORDRECHT: SPRINGER. ISSN 1573-2665

Mercuri, Eugenio ORCID: 0000-0002-9851-5365, Finkel, Richard S., Muntoni, Francesco, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Montes, Jacqueline, Main, Marion, Mazzone, Elena S., Vitale, Michael, Snyder, Brian, Quijano-Roy, Susana, Bertini, Enrico ORCID: 0000-0001-9276-4590, Davis, Rebecca Hurst, Meyer, Oscar H., Simonds, Anita K., Schroth, Mary K., Graham, Robert J., Kirschner, Janbernd ORCID: 0000-0003-1618-7386, Iannaccone, Susan T., Crawford, Thomas O., Woods, Simon ORCID: 0000-0002-8998-5234, Qian, Ying and Sejersen, Thomas (2018). Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromusc. Disord., 28 (2). S. 103 - 116. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

Schorling, David C., Koelbel, Heike, Hentschel, Andreas, Pechmann, Astrid, Meyer, Nancy, Wirth, Brunhilde, Rombo, Roman, Sickmann, Albert, Kirschner, Janbernd ORCID: 0000-0003-1618-7386, Schara-Schmidt, Ulrike, Lochmuller, Hanns and Roos, Andreas (2022). Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy. Eur. J. Neurol., 29 (7). S. 2084 - 2097. HOBOKEN: WILEY. ISSN 1468-1331

This list was generated on Sat Sep 30 06:58:13 2023 CEST.